title: [Spontaneous abortion of male fetuses with incontinentia pigmenti (apropos of a family)].
abstract: We report a family with incontinentia pigmenti. One affected woman had seven pregnancies, seven miscarriages; a prenatal diagnosis by molecular biology was undertaken in the last four cases (two males, two females). In the last two males, a miscarriage occurred at the beginning of the second trimester with cystic hygroma in a case. In the first two males a miscarriage was observed also at the beginning of the second trimester after chorionic biopsy or amniocentesis. These two miscarriages would not be a complication of prenatal diagnosis but spontaneous abortion of an affected male. The date of the miscarriage of affected males (the beginning of the second trimester) and the role of a cystic hygroma for the diagnosis of incontinentia pigmenti in this mother of a fetus karyotyped 46,XY are discussed.
authors.affiliation: Unité de Médecine Foetale, Hôpital Pontchaillou, Rennes.
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: B
authors.initials: B
authors.lastname: Le Marec
authors.forename: A
authors.initials: A
authors.lastname: Smahi
authors.forename: C
authors.initials: C
authors.lastname: Hors-Cayla
authors.forename: J
authors.initials: J
authors.lastname: Milon
authors.forename: H
authors.initials: H
authors.lastname: Jouan
authors.forename: M C
authors.initials: MC
authors.lastname: Laurent
authors.forename: A M
authors.initials: AM
authors.lastname: Borg
mesh_terms: D000028:Abortion, Induced; D000022:Abortion, Spontaneous / Q000209:etiology*; D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D007184:Incontinentia Pigmenti / Q000000981:diagnostic imaging / Q000235:genetics*; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008967:Molecular Biology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012737:Sex Factors; D016216:Ultrasonography, Prenatal
vernacular_title: L'interruption spontanée des grossesses de foetus mâles atteints dans l'incontinentia pigmenti (a propos d'une famille).